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Article ; Online: A heterozygous pathogenic variant in the ATP6V1A gene triggering epilepsy in a large Chinese pedigree.

Xiaoquan, Chen / Yuting, Lou / Pu, Miao / Haiying, Cheng / Zheng, Wan / Ye, Wang / Fan, Yang / Mengmeng, Liang / Jianhua, Feng

Clinical neurology and neurosurgery

2023 Volume 233, Page(s) 107956

Abstract: Epilepsy is one of the most common disorders in children, with an incidence rate of approximately 5%. Although an increasing number of genes have been demonstrated to be pathogenic factors in epilepsy, evidence for a potential pathogenic role of ATP6V1A ... ...

Abstract	Epilepsy is one of the most common disorders in children, with an incidence rate of approximately 5%. Although an increasing number of genes have been demonstrated to be pathogenic factors in epilepsy, evidence for a potential pathogenic role of ATP6V1A remains limited. Herein, the clinical and genetic data of a 5-year-old boy who experienced seizures at 9 months of age are collected. Genetic variants are screened using whole-exome sequencing (WES), and the effects of the candidate variants are further validated at both the RNA and protein levels. WES reveals a heterozygous variant [NM_001690.4: c .1132 C>T, p.Leu378Phe] of the ATP6V1A gene. This variant is not reported in the public database, but is predicted to be deleterious by multiple software packages, and classified as a variant of unknown significance following the American College of Medical Genetics and Genomics guidelines. Quantitative PCR and western blotting further confirm its down-regulatory role in both the RNA and protein expression of ATP6V1A. This case report confirms the pathogenicity of ATP6V1A in epilepsy with solid experimental evidence, thereby expanding the phenotype spectrum of ATP6V1A variants. More importantly, we show that seizures triggered by ATP6V1A variants could be controlled by Levetiracetam, crucially rescuing the development of the patient.
MeSH term(s)	Child, Preschool ; Humans ; Male ; East Asian People ; Epilepsy/genetics ; Epilepsy/pathology ; Mutation ; Pedigree ; RNA ; Seizures ; Vacuolar Proton-Translocating ATPases/genetics ; Infant
Chemical Substances	ATP6V1A protein, human (EC 3.6.1.-) ; RNA (63231-63-0) ; Vacuolar Proton-Translocating ATPases (EC 3.6.1.-)
Language	English
Publishing date	2023-09-01
Publishing country	Netherlands
Document type	Case Reports ; Journal Article
ZDB-ID	193107-6
ISSN	1872-6968 ; 0303-8467
ISSN (online)	1872-6968
ISSN	0303-8467
DOI	10.1016/j.clineuro.2023.107956
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Article: Safety of early antiplatelet therapy in non-cardioembolic mild stroke patients with thrombocytopenia.

Xu, Dongjuan / Zhou, Huan / Hu, Mengmeng / Sheng, Yilei / Li, Hongfei / Wei, Lianyan / Xu, Jing / Jiang, Zhuangzhuang / Shao, Xiaoli / Xi, Zhenhua / He, Songbin / Lou, Min / Ke, Shaofa

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences

2024 , Page(s) 1–9

Abstract: Objectives: To investigate the safety of early antiplatelet therapy in non-cardioembolic mild stroke patients with thrombocytopenia.: Methods: Data of acute ischemic stroke patients with baseline National Institutes of Health Stroke scale (NIHSS) ... ...

Title translation	合并血小板减少症的非心源性轻型卒中患者早期抗血小板治疗的安全性研究.
Abstract	Objectives: To investigate the safety of early antiplatelet therapy in non-cardioembolic mild stroke patients with thrombocytopenia. Methods: Data of acute ischemic stroke patients with baseline National Institutes of Health Stroke scale (NIHSS) score ≤3 and a platelet count <100×10 Results: A total of 1868 non-cardioembolic mild stroke patients with thrombocytopenia were enrolled in this study. Multivariate regression analyses showed that mono-antiplatelet therapy significantly increased the proportion of mRS of 0-1 at discharge ( Conclusions: For non-cardioembolic mild stroke patients with thrombocytopenia, antiplatelet therapy is still reasonable. Mono-antiplatelet therapy has the same efficiency as dual-antiplatelet therapy in neurological outcome improvement with lower risk of gastrointestinal bleeding.
Language	Chinese
Publishing date	2024-03-25
Publishing country	China
Document type	Journal Article
ISSN	1008-9292
ISSN	1008-9292
DOI	10.3724/zdxbyxb-2023-0423
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Article ; Online: Phosphatidylinositol-specific phospholipase C can decrease Müller cell viability and suppress its phagocytic activity by modulating PI3K/AKT signaling pathway.

Sun, Bianjin / Lin, Shudan / Zheng, Mengmeng / Zheng, Beijia / Mao, Liping / Gu, Yunfeng / Cai, Jiabei / Dai, Yiran / Zheng, Meiqin / Lou, Yongliang

Canadian journal of microbiology

2023 Volume 69, Issue 12, Page(s) 501–511

Abstract: ... Bacillus ... ...

Abstract	Bacillus cereus
MeSH term(s)	Humans ; Phosphoinositide Phospholipase C/genetics ; Phosphoinositide Phospholipase C/metabolism ; Phosphatidylinositol Diacylglycerol-Lyase/genetics ; Phosphatidylinositol Diacylglycerol-Lyase/metabolism ; Phosphatidylinositol 3-Kinases/genetics ; Phosphatidylinositol 3-Kinases/metabolism ; Proto-Oncogene Proteins c-akt/genetics ; Proto-Oncogene Proteins c-akt/metabolism ; Cell Survival ; Ependymoglial Cells/metabolism ; Listeria monocytogenes ; Phagocytes/metabolism ; Signal Transduction ; Endophthalmitis ; Type C Phospholipases/genetics ; Type C Phospholipases/metabolism
Chemical Substances	Phosphoinositide Phospholipase C (EC 3.1.4.11) ; Phosphatidylinositol Diacylglycerol-Lyase (EC 4.6.1.13) ; Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; Proto-Oncogene Proteins c-akt (EC 2.7.11.1) ; Type C Phospholipases (EC 3.1.4.-)
Language	English
Publishing date	2023-09-06
Publishing country	Canada
Document type	Journal Article
ZDB-ID	280534-0
ISSN	1480-3275 ; 0008-4166
ISSN (online)	1480-3275
ISSN	0008-4166
DOI	10.1139/cjm-2023-0044
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Article ; Online: Peptidoglycan recognition protein MsPGRP in largemouth bass (Micropterus salmoides) mediates immune functions with broad nonself recognition ability.

Huang, Mengmeng / Dong, Taiwei / Lou, Xiaocong / Zhang, Yunkai / Tao, Tao / Zhou, Peng / Yang, Shun / Fei, Hui

Fish & shellfish immunology

2023 Volume 134, Page(s) 108614

Abstract: Peptidoglycan (PGN) recognition proteins (PGRPs) are important immune factors in innate immunity that function in recognising pathogens and activating the immune system. These ubiquitous proteins are conserved in invertebrates and vertebrates. In this ... ...

Abstract	Peptidoglycan (PGN) recognition proteins (PGRPs) are important immune factors in innate immunity that function in recognising pathogens and activating the immune system. These ubiquitous proteins are conserved in invertebrates and vertebrates. In this study, a PGRP gene (MsPGRP) from largemouth bass (Micropterus salmoides) was identified and characterised, and its transcription distribution was explored. Recombinant protein (rMsPGRP) exhibited dose-dependent binding to PGN and glucan (GLU), but weak binding to lipopolysaccharide (LPS). MsPGRP exhibited agglutinating activity against several Gram-negative bacteria, Gram-positive bacteria and fungi, and it promoted phagocytosis activity of leukocytes against Micrococcus luteus and Aeromonas hydrophila. The protein also possessed amidase activity in the presence of Zn
MeSH term(s)	Animals ; Bass ; Carrier Proteins/genetics ; Immunity, Innate/genetics ; Recombinant Proteins ; Peptidoglycan/metabolism
Chemical Substances	peptidoglycan recognition protein ; Carrier Proteins ; Recombinant Proteins ; Peptidoglycan
Language	English
Publishing date	2023-02-10
Publishing country	England
Document type	Journal Article
ZDB-ID	1067738-0
ISSN	1095-9947 ; 1050-4648
ISSN (online)	1095-9947
ISSN	1050-4648
DOI	10.1016/j.fsi.2023.108614
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Article ; Online: RAI2 acts as a tumor suppressor with functional significance in gastric cancer.

Lou, Xiaoli / Deng, Wei / Shuai, Lixiong / Chen, Yijing / Xu, Mengmeng / Xu, Jingze / Zhang, Yongsheng / Wu, Yongyou / Cao, Zhifei

Aging

2023 Volume 15, Issue 21, Page(s) 11831–11844

Abstract: Metastasis of gastric cancer (GC) is one of the major causes of death among GC patients. GC metastasis involves numerous biological processes, yet the specific molecular biological mechanisms have not been elucidated. Here, we report a novel tumor ... ...

Abstract	Metastasis of gastric cancer (GC) is one of the major causes of death among GC patients. GC metastasis involves numerous biological processes, yet the specific molecular biological mechanisms have not been elucidated. Here, we report a novel tumor suppressor, retinoic acid-induced 2 (RAI2), which is located in the Xp22 region of the chromosome and plays a role in inhibiting GC growth and invasion. In this study, integrated analysis of The Cancer Genome Atlas (TCGA), Gene Expression Omnibus (GEO) datasets and immunohistochemistry staining data suggested that RAI2 expression in GC samples was low. Moreover, the immune infiltration analysis indicated that low expression of RAI2 in GC was associated with a higher intensity of tumor-infiltrating lymphocytes (TILs) and an abundance of Programmed death ligand 1 (PD-L1) expression. Gene set enrichment analysis (GSEA) analysis further revealed that RAI2 regulated some pathways including the GAP junction, focal adhesion and ECM receptor interaction pathway, immune regulation, PI3K-Akt signaling, MAPK signaling, cell cycle, and DNA replication. Furthermore, the knockdown of RAI2 promoted GC cell proliferation, migration, and invasion
MeSH term(s)	Humans ; Stomach Neoplasms/pathology ; Phosphatidylinositol 3-Kinases/metabolism ; Signal Transduction ; Gene Expression Regulation, Neoplastic ; Prognosis ; Intercellular Signaling Peptides and Proteins/metabolism
Chemical Substances	Phosphatidylinositol 3-Kinases (EC 2.7.1.-) ; RAI2 protein, human ; Intercellular Signaling Peptides and Proteins
Language	English
Publishing date	2023-10-25
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ISSN	1945-4589
ISSN (online)	1945-4589
DOI	10.18632/aging.205135
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Article: Predictive Value of MRI Pelvimetry in Vaginal Delivery and Its Practicability in Prolonged Labour-A Prospective Cohort Study.

Li, Juan / Lou, Ying / Chen, Cheng / Zheng, Weizeng / Chen, Yuan / Dong, Tian / Yang, Mengmeng / Zhao, Baihui / Luo, Qiong

Journal of clinical medicine

2023 Volume 12, Issue 2

Abstract: Background: Pelvic dimensions are crucial variables in the labour process. We used magnetic resonance imaging (MRI) pelvimetry to predict the probability of vaginal delivery and distinguish the cephalopelvic disproportion risk in women with prolonged ... ...

Abstract	Background: Pelvic dimensions are crucial variables in the labour process. We used magnetic resonance imaging (MRI) pelvimetry to predict the probability of vaginal delivery and distinguish the cephalopelvic disproportion risk in women with prolonged active labour. Methods: This prospective cohort study enrolled term nulliparous women willing to undergo MRI pelvimetry and a trial of labour. A nomogram, with vaginal birth as the outcome, was developed and evaluated by calibration curve and decision curve analyses. The pairwise association between maternal and fetal parameters and a prolonged first stage of labour was quantified. Results: Head circumference (HC), abdominal circumference (AC), intertuberous distance (ITD), interspinous diameter (ISD), and body mass index (BMI) were introduced to develop a nomogram with good diagnostic performance (area under the curve = 0.799, sensitivity = 83%, and specificity = 73%). The cephalopelvic index of diameter (CID) in 54 women with a prolonged first stage of labour was much smaller in those who delivered via cesarean section compared with those who delivered vaginally (18.09 ± 1.14 vs. 21.29 ± 1.06; Conclusions: An MRI pelvimetry-based nomogram may predict the probability of vaginal delivery. Practitioners should reassess the pelvimetry parameters to decide whether the trial of labour should be continued if it is prolonged.
Language	English
Publishing date	2023-01-05
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2662592-1
ISSN	2077-0383
ISSN	2077-0383
DOI	10.3390/jcm12020442
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Article ; Online: Association between intraoperative mean arterial pressure variability and postoperative delirium after hip fracture surgery: a retrospective cohort study.

Zhang, Chuangxin / Song, Yuxiang / Wu, Xiaodong / Miao, Ran / Lou, Jingsheng / Ma, Yulong / Li, Mengmeng / Mi, Weidong / Cao, Jiangbei

BMC geriatrics

2023 Volume 23, Issue 1, Page(s) 735

Abstract: Background: Postoperative delirium (POD) is a common complication in elderly patients after hip fracture surgery. Our study was to investigate whether intraoperative mean arterial pressure variability (MAPV) was associated with POD in elderly patients ... ...

Abstract	Background: Postoperative delirium (POD) is a common complication in elderly patients after hip fracture surgery. Our study was to investigate whether intraoperative mean arterial pressure variability (MAPV) was associated with POD in elderly patients after hip fracture surgery. Methods: In this retrospective cohort study, patients aged 65 years and older undergoing hip fracture surgery were included. The correlation between MAPV and POD was investigated using univariate and multivariate logistic regression. Covariate-related confounding effects were eliminated with propensity score matching (PSM) analysis. Then, a subgroup analysis was conducted to further examine the associations between MAPV and POD. Results: Nine hundred sixty-three patients with a median age of 80 years (IQR: 73-84) were enrolled. POD occurred in 115/963 (11.9%) patients within 7 days after surgery. According to multivariate regression analysis, MAPV > 2.17 was associated with an increased risk of POD (OR: 2.379, 95% CI: 1.496-3.771, P < 0.001). All covariates between the two groups were well balanced after PSM adjustment. A significant correlation between MAPV and POD was found in the PSM analysis (OR: 2.851, 95% CI: 1.710-4.746, P < 0.001). Conclusions: An increased intraoperative MAPV may be a predictor for POD.
MeSH term(s)	Aged ; Humans ; Aged, 80 and over ; Emergence Delirium ; Arterial Pressure ; Retrospective Studies ; Hip Fractures/surgery ; Multivariate Analysis ; Postoperative Complications/diagnosis ; Postoperative Complications/epidemiology ; Postoperative Complications/etiology ; Risk Factors
Language	English
Publishing date	2023-11-13
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2059865-8
ISSN	1471-2318 ; 1471-2318
ISSN (online)	1471-2318
ISSN	1471-2318
DOI	10.1186/s12877-023-04425-9
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Article ; Online: A Heterozygous Variant of FGF13 Caused X-Linked Developmental and Epileptic Encephalopathy 90 in a Chinese Family.

Cheng, Haiying / Miao, Pu / Wang, Ye / Guo, Yufan / Gao, Liuyan / Lou, Yuting / Yang, Fan / Liang, Mengmeng / Feng, Jianhua

Cytogenetic and genome research

2023 Volume 163, Issue 1-2, Page(s) 36–41

Abstract: Developmental and epileptic encephalopathy (DEE) refers to a group of severe epilepsy encephalopathy and development disorders, and its typical clinical features include seizures, drug resistance, and developmental delay or regression. To date, limited ... ...

Abstract	Developmental and epileptic encephalopathy (DEE) refers to a group of severe epilepsy encephalopathy and development disorders, and its typical clinical features include seizures, drug resistance, and developmental delay or regression. To date, limited studies have reported DEEs driven by FGF13. Here, we reported a girl with developmental and epileptic encephalopathy 90 caused by variant of FGF13. Her electroencephalogram (EEG) showed discontinuous hypsarrhythmia, and a heterozygous nonsynonymous variant in FGF13 [NM_004114.4: c.5C>G, p.(Ala2Gly)] was identified from the proband. The variant was not reported in public databases such as gnomAD and Exome Aggregation Consortium (ExAC), and was predicted to be damaging to proteins and classified as likely pathogenic according to the ACMG guidelines. The seizure was finally controlled by a combination of ACTH + zonisamide (10 mg/kg.d) + levetiracetam (52 mg/kg.d) + clonazepam (0.7 mg/kg.d).
MeSH term(s)	Humans ; Female ; East Asian People ; Phenotype ; Epilepsy/genetics ; Seizures/genetics
Chemical Substances	fibroblast growth factor 13 (330E71H5Q4)
Language	English
Publishing date	2023-08-03
Publishing country	Switzerland
Document type	Case Reports
ZDB-ID	2087824-2
ISSN	1424-859X ; 1424-8581
ISSN (online)	1424-859X
ISSN	1424-8581
DOI	10.1159/000531932
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Article ; Online: Largemouth bass galectin, MsGal-9: Mediating various functions as a pattern recognition receptor and a potential damage-associated molecular pattern.

Huang, Mengmeng / Lou, Xiaocong / Tao, Tao / Li, Haoyuan / Guo, Yang / Yuan, Zhenzhen / Yang, Shun / Fei, Hui

Fish & shellfish immunology

2023 Volume 145, Page(s) 109348

Abstract: Galectins are lectins that bind to β-galactose and are widely expressed in immune system tissues, playing pivotal roles in innate immunity through their conserved carbohydrate-recognition domains (CRDs). In this present investigation, a tandem-repeat ... ...

Abstract	Galectins are lectins that bind to β-galactose and are widely expressed in immune system tissues, playing pivotal roles in innate immunity through their conserved carbohydrate-recognition domains (CRDs). In this present investigation, a tandem-repeat galectin was discovered in the largemouth bass, Micropterus salmoides (designated as MsGal-9). The open reading frame of MsGal-9 encodes two CRDs, each containing two consensus motifs that are essential for ligand binding. MsGal-9 is expressed in various tissues of the largemouth bass, with particularly high expression levels in the liver and spleen. The full-length form of MsGal-9, as well as the N-terminal (MsGal-9-N) and C-terminal (MsGal-9-C) CRDs, were individually recombined. Their ability for nonself recognition was studied. The three recombinant proteins were able to bind to glucan (GLU), peptidoglycan (PGN), and lipopolysaccharide (LPS), with MsGal-9 displaying the highest binding activity. Furthermore, rMsGal-9-N exhibited higher binding activity towards GLU in comparison to rMsGal-9-C. Further investigations revealed that the full-length rMsGal-9 could significantly bind to Gram-positive bacteria, Gram-negative bacteria, and fungi, while rMsGal-9-C specifically bound to Escherichia coli. However, rMsGal-9-N did not exhibit significant binding activity towards any microbes. These findings indicate that MsGal-9 requires both CRDs to cooperate in order to fulfill its nonself recognition function. All three recombinant proteins demonstrated agglutination activity towards various microbes, with MsGal-9 and MsGal-9-N displaying a similar broad binding spectrum, while MsGal-9-C agglutinated three types of bacteria. Moreover, both MsGal-9 and MsGal-9-N were capable of coagulating largemouth bass red blood cells, whereas MsGal-9-C lacked this ability. However, MsGal-9-C played a significant role in enhancing the encapsulation of leukocytes in comparison to MsGal-9-N. All three proteins acted as potential damage-associated molecular patterns (DAMPs), inducing apoptosis in leukocytes.
MeSH term(s)	Animals ; Galectins/genetics ; Bass/metabolism ; Amino Acid Sequence ; Sequence Alignment ; Receptors, Pattern Recognition/metabolism ; Immunity, Innate ; Recombinant Proteins ; Carbohydrates ; Phylogeny
Chemical Substances	Galectins ; Receptors, Pattern Recognition ; Recombinant Proteins ; Carbohydrates
Language	English
Publishing date	2023-12-30
Publishing country	England
Document type	Journal Article
ZDB-ID	1067738-0
ISSN	1095-9947 ; 1050-4648
ISSN (online)	1095-9947
ISSN	1050-4648
DOI	10.1016/j.fsi.2023.109348
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Article ; Online: Interference with lncRNA NEAT1 promotes the proliferation, migration, and invasion of trophoblasts by upregulating miR-411-5p and inhibiting PTEN expression.

Fan, Xufei / Lou, Jianyi / Zheng, Xiujuan / Wang, Ying / Wang, Jiayue / Luo, Mengmeng / Hu, Min

Immunopharmacology and immunotoxicology

2021 Volume 43, Issue 3, Page(s) 334–342

Abstract: Background: ...

Abstract	Background:
MeSH term(s)	Cell Line ; Cell Movement ; Cell Proliferation ; Female ; Gene Expression Regulation, Developmental ; Humans ; MicroRNAs/biosynthesis ; PTEN Phosphohydrolase/biosynthesis ; Pregnancy ; RNA, Long Noncoding/genetics ; RNA, Long Noncoding/metabolism ; Trophoblasts/metabolism ; Up-Regulation
Chemical Substances	MIRN411 microRNA, human ; MicroRNAs ; NEAT1 long non-coding RNA, human ; RNA, Long Noncoding ; PTEN Phosphohydrolase (EC 3.1.3.67) ; PTEN protein, human (EC 3.1.3.67)
Language	English
Publishing date	2021-04-20
Publishing country	England
Document type	Journal Article ; Video-Audio Media
ZDB-ID	807033-7
ISSN	1532-2513 ; 0892-3973
ISSN (online)	1532-2513
ISSN	0892-3973
DOI	10.1080/08923973.2021.1910834
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